Skip to main content

Wilson's Disease






Introduction

Wilson's disease is an inherited inborn error of metabolism in which the body cannot process copper.
What is going on in the body?
Wilson's disease is caused by a defect in an enzyme, or special protein. This enzyme normally helps the body get rid of extra copper. The amount of copper in a normal diet is more than the body needs. In people with Wilson's disease, the extra copper cannot be excreted from the body. The copper can damage the liver, brain, kidney, cornea, and other organs.
What are the causes and risks of the disease?
Wilson's disease is an inherited disorder. The children of parents who carry the gene for the disorder are at risk. The liver disease usually starts between ages 8 and 12, while the brain symptoms occur later in life.
What are the signs and symptoms of the disease?
Wilson's disease may cause:

  • anemia, or low red blood cell counts
  • ataxia, or lack of coordination
  • jaundice, or yellow eyes and skin
  • kidney problems, which are usually minor
  • loss of appetite
  • psychiatric problems, such as anxiety, depression, personality changes, and psychosis
  • slurred speech or inability to form words
  • tremors, or involuntary rhythmic movements
  • weakness and a general discomfort    




    • How is the disease diagnosed?
    Diagnosis of Wilson's disease begins with a medical history and physical exam. Usually there are high levels of copper in the urine. Often the level of a special protein in the blood is lower than normal. A liver biopsy involves taking a small piece of liver with a special needle put through the skin. The piece can then be examined under a microscope for excess copper.

    What are the treatments for the disease?
    Treatment is started right after the diagnosis is made, even if there are no symptoms. It continues for the rest of the person's life. If treatment is stopped, the symptoms return. Treatment includes avoiding foods rich in copper. Examples of such foods are dried beans, peas, whole wheat, chocolate, and organ meats.
    Medicines are also needed. Penicillamine is usually used to treat Wilson's disease. It binds copper and allows it to be excreted in the urine. Pyridoxine, a component of vitamin B6, is also given. Other medicines such as trientine dihydrochloride and zinc may be used in some cases.
    In rare cases, Wilson's disease may cause rapid, severe liver damage. The only option in such cases is a liver transplant.
    What are the side effects of the treatments?
    All medicines have side effects, such as allergic reactions or stomach upset. Penicillamine may cause a rash, low blood cell counts, or joint pains.
    What happens after treatment for the disease?
    Someone with Wilson's disease will need lifelong treatment.




     Reference
    Wilson Disease Association
    American Liver Foundation.

    Comments

    Post a Comment

    Popular posts from this blog

    Sputum Cytology

    How is the test performed? This test is usually performed in the morning, right after waking up. The person is asked to rinse his or her mouth with water to avoid a poor sample. After taking several deep breaths, the person then coughs deeply. This should bring up enough of a material from deep in the lungs known as sputum. Sputum is different from spit. The sputum sample is then taken to a lab. The lab can then examine the sample with a microscope    What is involved in preparation for the test? Instructions on sample collection are provided to people having this test. No other special preparation is needed   What do the test results mean? Usually, sputum contains some normal cells. No cells that look like cancer should be in the sample. If cancer cells are seen, the person usually has lung cancer.
    Post a Comment
    Read more

    Toxic Shock Syndrome

    Introduction Toxic shock syndrome, or TSS, is a rare, potentially life-threatening disorder. It occurs when toxins made by certain types of bacteria are released into the bloodstream. What is going on in the body? Toxic shock syndrome was first described in children in 1978. Experts quickly realized it happened more often among women who used superabsorbent tampons during their periods. TSS is triggered by toxins made by Staphylococcus aureus bacteria. The toxins cause a high fever and can damage the kidneys, liver, and heart. Experts believe that tampons may block bacteria within the vagina. The moist, humid environment allows them to grow and produce high levels of toxins. Tampons can cause very small cuts in the vagina during insertion. These small cuts allow bacteria and their toxins to enter the bloodstream. About 70% of TSS cases have been related to certain brands of highly absorbent tampons that are no longer made. What are the causes and risks of the...
    Post a Comment
    Read more

    Bone Marrow Biopsy

    Who is a candidate for the procedure? A person may undergo a bone marrow biopsy in order to: diagnose different types of leukemia when a blood test shows suspicious cell changes follow the response to a leukemia treatment help in diagnosis and treatment of certain other cancers diagnose and monitor the treatment of certain noncancerous blood disorders How is the procedure performed? First, the skin over the rear of the pelvic bone is cleansed. Local anesthesia is used to numb the area. Sometimes a drug is given intravenously to help calm the person having the procedure. A hollow stainless steel needle is inserted into the back part of the pelvic bone. Once it is inside the bone, a sample of the liquid marrow is drawn into the syringe. Sometimes a larger hollow needle is used to obtain a solid core specimen of marrow from the same area. No incision or sutures are needed. The sample taken is checked under a microscope for abnormal cells.     ...
    Post a Comment
    Read more